Canonical Allele Identifier: CA171706564
Gene:

Linked Data

dbSNP Id: rs544881571
gnomAD v3: 8-5907819-A-C
gnomAD v4: 8-5907819-A-C
MyVariant Identifiers: chr8:g.5765341A>C (hg19) chr8:g.5907819A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.5907819A>C , CM000670.2:g.5907819A>C GRCh38
NC_000008.10:g.5765341A>C , CM000670.1:g.5765341A>C GRCh37
NC_000008.9:g.5752749A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_941374.1:n.308-8088T>G
XR_941375.1:n.308-8088T>G
XR_941376.1:n.406-8088T>G
XR_941377.1:n.308-8088T>G
XR_941378.1:n.216-8088T>G
XR_001745765.1:n.308-8088T>G
XR_001745766.1:n.406-8088T>G
XR_001745767.1:n.216-8088T>G
XR_001745768.1:n.308-8088T>G
XR_941374.2:n.308-8088T>G
XR_941375.2:n.308-8088T>G
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